Research of association of polymorphic variants of gene arylamine-N-acetyltransferase 2 with the development of bronchial asthma in children
R.R. MURZINA1, A.S. KARUNAS2, R.Ph. GATIYATULLIN3, Yu.Yu. FEDOROVA2, E.K. KHUSNUTDINOVA2, E.N. AKHMADEEVA3
1Republican Children’s Clinical Hospital, 98 Stepan Kuvykin Str., Ufa, Russian Federation, 450106
2Institute of Biochemistry and Genetics of the Ufa Scientific Center of the Russian Academy of Sciences, 71 Oktyabrya Str., Ufa, Russian Federation, 450054
³Bashkir State Medical University, 3 Lenin Str., Ufa, Russian Federation, 450000
Murzina R.R. ― Cand. Med. Sc., allergist-immunologist of the allergy department, tel.: (347) 229-08-43, +7-905-002-05-67, e-mail: Gigi08@yandex.ru
Karunas A.S. ― D. Biol. Sc., Associate Professor, senior researcher of the Laboratory of Human Molecular Genetics, tel. (347) 235-60-88, e-mail: carunas@list.ru
Gatiyatullin R.Ph. ― D. Med. Sc., Professor of the Department of Hospital pediatrics with the course of an outpatient pediatrics, tel. (347) 255-73-26, e-mail: radikfidagi@mail.ru
Fedorova Yu.Yu. ― Cand. Biol. Sc., Rresearcher of the Laboratory of Molecular Human Genetics, tel. (347) 235-60-88, e-mail: fedorova-y@yandex.ru
Khusnutdinova E.K. ― D. Biol. Sc., Professor, Head of the Laboratory of Molecular Human Genetics, tel. (347) 235-60-88, e-mail: ekkh@anrb.ru
Akhmadeeva E.N. ― D. Med. Sc., Professor, Head of the Department of Hospital Pediatrics, tel. (347) 255-73-26, e-mail: pediatr@ufanet.ru
The analysis of polymorphic variants rs1799929, rs1799930, rs1799931 of gene arylamine-N-acetyltransferase 2 (NAT2) in children with bronchial asthma and healthy individuals of different ethnic backgrounds living in the Republic of Bashkortostan was performed. The association of the homozygous genotype rs1799929 * T/T with medium-severe bronchial asthma in children was found. The association of genotype rs1799930*A/A with moderate/significant decrease in VC and FEV1 in patients with bronchial asthma and association of allele rs1799930*A (22,5%) with the risk of asthma exacerbation according to the daily variability of PEF were revealed.
Key words: bronchial asthma, polymorphic variant, gene arylamine-N-acetyltransferase 2.
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